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mucopolysaccharidosis IV
Summary
- Synonym
-
- Mucopolysaccharidosis, MPS-IV
- deficiency of N-acetylgalactosamine-6-sulphatase
- deficiency of chondroitinsulphatase
- galactosamine-6-sulfatase deficiency
- Definition
- A mucopolysaccharidosis characterized by a deficiency of the lysosomal enzymes galactose 6-sulfate sulfatase (Type A) or beta-galactosidase (Type B) needed to break down the keratan sulfate sugar chain.
- Super Class
- mucopolysaccharidosis
Related Genes
| Gene ID | Gene Symbol | Description | Source |
|---|---|---|---|
| 4758 | NEU1 | neuraminidase 1 | |
| 4907 | NT5E | 5'-nucleotidase ecto | |
| 5167 | ENPP1 | ectonucleotide pyrophosphatase/phosphodiesterase 1 | |
| 5238 | PGM3 | phosphoglucomutase 3 | |
| 5476 | CTSA | cathepsin A | |
| 5728 | PTEN | phosphatase and tensin homolog | |
| 6448 | SGSH | N-sulfoglucosamine sulfohydrolase | |
| 6482 | ST3GAL1 | ST3 beta-galactoside alpha-2,3-sialyltransferase 1 | |
| 6483 | ST3GAL2 | ST3 beta-galactoside alpha-2,3-sialyltransferase 2 | |
| 6484 | ST3GAL4 | ST3 beta-galactoside alpha-2,3-sialyltransferase 4 |
Related Glycoprotein
